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Haemochromatosis is a relatively common autosomal dominat genetic disease which affects the liver and other organs through the accumulation of excess iron within the tissues. Whilst the genetic defect is equally common in men and women men are more often affected because regular menstrual blood loss makes iron overload less common in women.

Iron stores can be measured a number of ways. Ferritin is a protein found in blood which acts as an iron transport molecule and an acute phase reactant. An acute phase reactant is a product made by the body in response to inflammation, so levels of ferritin may be artificially elevated in those who are unwell for other reasons. For this reason iron levels and iron saturations are often used. In patients with haemochromatosis both of these may be raised. In the treatment of haemochromatosis UK guidance suggests men should aim for iron saturations of less than 50%, whereas women should aim for saturations of less than 40%. Nevertheless treatment is generally not indicated unless there is evidence of either significant iron overload or end organ damage. Current guidance suggests all patients with a serum ferritin of greater than 200mcg/l for women and 300mcg/l for men should be tested for the genes conferring susceptibility for the disease. In addition they should have a full blood count, liver function tests (LFTs), iron and transferrin saturation (Tsat).

If an individual is found to carry two alleles, in other words two copies, of the genes conferring susceptibility (either 2x C282 or 2x H63D )screening of other family members is recommended. Extended family screening is not recommended if an individual is identified as a C282Y/H63D compound heterozygote (in other word one copy of each of the different genes conferring susceptibility) screening is not currently recommended.

In those with the recognised genes a ferritin of >1000mcg/l or abnormal LFT’s referral to a hepatologist is recommended for further assessment. Usually this involves assessment of iron load in the liver (MRI scan usually) and assessment of liver fibrosis (fibroscan). In those with the genes and a ferritin of less than 1000mcg/l and normal examination and testing further investigation is not required. In those without the known genetic susceptibility assessment of hepatic iron stores may be indicated.

Treatment is usually focused on restoring iron stores by venesection (taking blood) until iron saturations are within the anticipated range. Patients with organ damage such as liver disease, diabetes or arthritis need these complications to be treated appropriately.

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